Canonical Allele Identifier: CA413295437

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55047525G>T (hg19) ; chrX:g.55021092G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021092G>T , CM000685.2:g.55021092G>T	GRCh38
NC_000023.10:g.55047525G>T , CM000685.1:g.55047525G>T	GRCh37
NC_000023.9:g.55064250G>T	NCBI36
NG_008983.1:g.14973C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000455688.2:c.382C>A	ENSP00000407204.2:p.Leu128Met
ENST00000477869.6:c.271C>A	ENSP00000496725.1:p.Leu91Met
ENST00000493869.2:c.305-588C>A	ENSP00000495713.1:n.305-588C>A
ENST00000650242.1:c.598C>A MANE Select	ENSP00000497236.1:p.Leu200Met
ENST00000330807.9:c.598C>A	ENSP00000332369.5:p.Leu200Met
ENST00000335854.8:c.487C>A	ENSP00000337131.4:p.Leu163Met
ENST00000396198.7:c.559C>A	ENSP00000379501.3:p.Leu187Met
ENST00000455688.1:c.453C>A
ENST00000463868.5:n.356-588C>A
ENST00000477869.5:n.342C>A
ENST00000493869.1:n.538C>A
NM_000032.4:c.598C>A	NP_000023.2:p.Leu200Met
NM_001037967.3:c.487C>A	NP_001033056.1:p.Leu163Met
NM_001037968.3:c.559C>A	NP_001033057.1:p.Leu187Met
XM_005261995.2:c.670C>A	XP_005262052.1:p.Leu224Met
XM_011530771.1:c.-223-588C>A	XP_011529073.1:n.-223-588C>A
NM_000032.5:c.598C>A MANE Select	NP_000023.2:p.Leu200Met
NM_001037967.4:c.487C>A	NP_001033056.1:p.Leu163Met
NM_001037968.4:c.559C>A	NP_001033057.1:p.Leu187Met